title: Association study of semaphorin 5A with risk of Parkinson's disease in a Chinese Han population.
abstract: Parkinson's disease (PD) is a common neurodegenerative disorder with genetic risk factors. Semaphorin 5A (SEMA5A) was recognized as a risk factor for PD through high resolution whole genome association study by Maraganore et al. We used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay to check two single nucleotide polymorphisms (SNPs) within SEMA5A in 340 PD patients and 222 PD free cases of Chinese Han ancestry and tested by gene sequencing. We found that the SEMA5A variant genotype (allele) of rs7702187 and rs3798097 had no association with the risk of PD in our sample. The AC haplotype was associated with a significant increased risk of PD and the AT haplotype showed an associated decreased risk of PD compared with the most common haplotype TC. Our findings suggested that haplotypes of SEMA5A may be involved in PD risk in the Chinese Han population.
authors.affiliation: Department of Neurology, the First Affiliated Hospital of Nanjing Medical University, No. 300, Guangzhou Street, Nanjing, Jiangsu Province 210029, P.R. China. dingxs6688@yahoo.com.cn
authors.forename: Haixia
authors.initials: H
authors.lastname: Ding
authors.forename: Feng
authors.initials: F
authors.lastname: Wang
authors.forename: Xinsheng
authors.initials: X
authors.lastname: Ding
authors.forename: Xinjian
authors.initials: X
authors.lastname: Song
authors.forename: Xiaowei
authors.initials: X
authors.lastname: Lu
authors.forename: Kezhong
authors.initials: K
authors.lastname: Zhang
authors.forename: Hang
authors.initials: H
authors.lastname: Xiao
authors.forename: Min
authors.initials: M
authors.lastname: Ye
authors.forename: Jiechun
authors.initials: J
authors.lastname: Chen
authors.forename: Qingshan
authors.initials: Q
authors.lastname: Zhang
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000208:ethnology / Q000209:etiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D039961:Semaphorins
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C491228:SEMA5A protein, human; D039961:Semaphorins